C5562061[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333374	NM_001042424.3(NSD2):c.1348C>T (p.Arg450Ter)	NSD2 (R450*)	Single nucleotide variant (nonsense)	Rauch-Steindl syndrome	GLikely pathogenic
Select item 547999	NM_133330.3(NSD2):c.1676_1679del	NSD2	Microsatellite (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 1687476	NM_001042424.3(NSD2):c.2147C>A (p.Ser716Ter)	NSD2 (S716*)	Single nucleotide variant (nonsense)	Rauch-Steindl syndrome	GLikely pathogenic

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